Disease-gene associations mined from literature

Human genes for Walker-Warburg syndrome

Walker-Warburg syndrome [DOID:0050560]

A congenital muscular dystrophy that is characterized by hypotonia, seizures, severe intellectual and developmental disability, eye abnormalities and early death and has_material_basis_in mutations in multiple genes including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE1.

Synonyms:  Walker-Warburg syndrome,  DOID:0050560,  WalkerWarburg syndrome,  Walker-Warburg disease,  Walker-Warburg disorder ...

Linkouts:  OMIM #1 #2